ERICH1 — 114 ClinVar variants
All ClinVar germline ERICH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →
7 Likely benign · 107 Uncertain significance
Full ERICH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 104
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERICH1 p.Ala176Glu Uncertain significance Single submitter
- ERICH1 p.Ala221Thr Uncertain significance Single submitter
- ERICH1 p.Ala235Val Uncertain significance Single submitter
- ERICH1 p.Ala269Pro Uncertain significance Single submitter
- ERICH1 p.Ala299Val Uncertain significance Single submitter
- ERICH1 p.Ala360Pro Uncertain significance Single submitter
- ERICH1 p.Ala364Asp Uncertain significance Single submitter
- ERICH1 p.Ala366Ser Uncertain significance Single submitter
- ERICH1 p.Ala368Val Uncertain significance Single submitter
- ERICH1 p.Ala377Thr Uncertain significance Single submitter
- ERICH1 p.Ala3Thr Uncertain significance Single submitter
- ERICH1 p.Ala94Thr Uncertain significance Single submitter
- ERICH1 p.Arg115Lys Uncertain significance Single submitter
- ERICH1 p.Arg163Lys Uncertain significance Single submitter
- ERICH1 p.Arg244Trp Uncertain significance Single submitter
- ERICH1 p.Arg284Trp Uncertain significance Single submitter
- ERICH1 p.Arg66Gln Uncertain significance Single submitter
- ERICH1 p.Arg67Leu Uncertain significance Single submitter
- ERICH1 p.Asn334Asp Uncertain significance Single submitter
- ERICH1 p.Asn93Ile Uncertain significance Single submitter
- ERICH1 p.Asp153Gly Uncertain significance Single submitter
- ERICH1 p.Asp194Asn Uncertain significance Single submitter
- ERICH1 p.Asp252Gly Uncertain significance Single submitter
- ERICH1 p.Asp297Gly Uncertain significance Single submitter
- ERICH1 p.Asp359Gly Uncertain significance Single submitter
- ERICH1 p.Asp367Asn Uncertain significance Single submitter
- ERICH1 p.Cys81Ser Uncertain significance Single submitter
- ERICH1 p.Gln31His Uncertain significance Single submitter
- ERICH1 p.Glu101Lys Uncertain significance Single submitter
- ERICH1 p.Glu193Lys Uncertain significance Single submitter
- ERICH1 p.Glu249Asp Uncertain significance Single submitter
- ERICH1 p.Glu249Gly Uncertain significance Single submitter
- ERICH1 p.Glu335Gly Uncertain significance Single submitter
- ERICH1 p.Glu371Val Uncertain significance Single submitter
- ERICH1 p.Glu409Val Uncertain significance Single submitter
- ERICH1 p.Glu53Asp Uncertain significance Single submitter
- ERICH1 p.Glu76Ala Uncertain significance Single submitter
- ERICH1 p.Gly203Arg Uncertain significance Single submitter
- ERICH1 p.Gly26Arg Uncertain significance Single submitter
- ERICH1 p.Gly310Arg Uncertain significance Single submitter
- ERICH1 p.Gly310Glu Uncertain significance Single submitter
- ERICH1 p.Gly314Val Uncertain significance Single submitter
- ERICH1 p.Gly318Arg Uncertain significance Single submitter
- ERICH1 p.Gly89Arg Uncertain significance Single submitter
- ERICH1 p.Gly97Arg Uncertain significance Single submitter
- ERICH1 p.His338Arg Uncertain significance Single submitter
- ERICH1 p.His51Leu Uncertain significance Single submitter
- ERICH1 p.Ile131Thr Uncertain significance Single submitter
- ERICH1 p.Leu404Trp Uncertain significance Single submitter
- ERICH1 p.Lys6Gln Uncertain significance Single submitter
- ERICH1 p.Met189Leu Uncertain significance Single submitter
- ERICH1 p.Met410Ile Uncertain significance Single submitter
- ERICH1 p.Pro126Leu Uncertain significance Single submitter
- ERICH1 p.Pro20Ser Uncertain significance Single submitter
- ERICH1 p.Pro258Leu Uncertain significance Single submitter
- ERICH1 p.Pro260Leu Uncertain significance Single submitter
- ERICH1 p.Pro260Ser Uncertain significance Single submitter
- ERICH1 p.Pro306Arg Uncertain significance Single submitter
- ERICH1 p.Pro30Leu Uncertain significance Single submitter
- ERICH1 p.Pro419Ser Uncertain significance Single submitter
- ERICH1 p.Pro80Leu Uncertain significance Single submitter
- ERICH1 p.Pro83Ala Uncertain significance Single submitter
- ERICH1 p.Pro85Ala Uncertain significance Single submitter
- ERICH1 p.Ser141Thr Uncertain significance Single submitter
- ERICH1 p.Ser302Ile Uncertain significance Single submitter
- ERICH1 p.Ser317Ala Uncertain significance Single submitter
- ERICH1 p.Thr394Met Uncertain significance Single submitter
- ERICH1 p.Thr58Ser Uncertain significance Single submitter
- ERICH1 p.Trp308Arg Uncertain significance Single submitter
- ERICH1 p.Tyr353Cys Uncertain significance Single submitter
- ERICH1 p.Val21Ala Uncertain significance Single submitter
- ERICH1 p.Val21Ile Uncertain significance Single submitter
- ERICH1 p.Val35Ala Uncertain significance Single submitter
- ERICH1 p.Val35Ile Uncertain significance Single submitter
- ERICH1 p.Val386Leu Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- ERICH1 p.Ala71Asp Uncertain significance Single submitter
- ERICH1 p.Arg230Thr Uncertain significance Single submitter
- ERICH1 p.Asn160Thr Uncertain significance Single submitter
- ERICH1 p.Asp241Glu Uncertain significance Single submitter
- ERICH1 p.Asp281Asn Uncertain significance Single submitter
- ERICH1 p.Asp400His Uncertain significance Single submitter
- ERICH1 p.Cys415Phe Uncertain significance Single submitter
- ERICH1 p.Glu231Ala Uncertain significance Single submitter
- ERICH1 p.Glu311Gly Uncertain significance Single submitter
- ERICH1 p.Gly210Asp Uncertain significance Single submitter
- ERICH1 p.Gly250Cys Uncertain significance Single submitter
- ERICH1 p.Gly274Asp Uncertain significance Single submitter
- ERICH1 p.Gly274Ser Uncertain significance Single submitter
- ERICH1 p.Gly298Ala Uncertain significance Single submitter
- ERICH1 p.Gly322Cys Uncertain significance Single submitter
- ERICH1 p.His391Gln Uncertain significance Single submitter
- ERICH1 p.Leu365Pro Uncertain significance Single submitter
- ERICH1 p.Met189Ile Uncertain significance Single submitter
- ERICH1 p.Phe18Ile Uncertain significance Single submitter
- ERICH1 p.Phe343Ser Uncertain significance Single submitter
- ERICH1 p.Phe428Leu Uncertain significance Single submitter
- ERICH1 p.Ser158Asn Uncertain significance Single submitter
- ERICH1 p.Ser339Arg Uncertain significance Single submitter
- ERICH1 p.Thr229Asn Uncertain significance Single submitter
- ERICH1 p.Thr277Asn Uncertain significance Single submitter
- ERICH1 p.Thr293Ile Uncertain significance Single submitter
- ERICH1 p.Thr416Met Uncertain significance Single submitter
- ERICH1 p.Val10Met Uncertain significance Single submitter
- ERICH1 p.Val386Met Uncertain significance Single submitter
All ERICH1 variants
Likely benign 7
- p.Ala251Val Single submitter
- p.Arg284Pro Single submitter
- p.Arg375His Single submitter
- p.His338Asp Single submitter
- p.Ile131Val Single submitter
- p.Leu365Phe Single submitter
- p.Ser339Gly Single submitter
Uncertain significance 107
- p.Ala176Glu Single submitter ⚠
- p.Ala221Thr Single submitter ⚠
- p.Ala235Val Single submitter ⚠
- p.Ala269Pro Single submitter ⚠
- p.Ala299Val Single submitter ⚠
- p.Ala360Pro Single submitter ⚠
- p.Ala364Asp Single submitter ⚠
- p.Ala366Ser Single submitter ⚠
- p.Ala368Val Single submitter ⚠
- p.Ala377Thr Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala71Asp Single submitter ⚠
- p.Ala94Thr Single submitter ⚠
- p.Arg115Lys Single submitter ⚠
- p.Arg163Lys Single submitter ⚠
- p.Arg230Thr Single submitter ⚠
- p.Arg244Trp Single submitter ⚠
- p.Arg284Trp Single submitter ⚠
- p.Arg66Gln Single submitter ⚠
- p.Arg67Leu Single submitter ⚠
- p.Asn160Thr Single submitter ⚠
- p.Asn334Asp Single submitter ⚠
- p.Asn93Ile Single submitter ⚠
- p.Asp153Gly Single submitter ⚠
- p.Asp194Asn Single submitter ⚠
- p.Asp241Glu Single submitter ⚠
- p.Asp252Gly Single submitter ⚠
- p.Asp281Asn Single submitter ⚠
- p.Asp297Gly Single submitter ⚠
- p.Asp359Gly Single submitter ⚠
- p.Asp367Asn Single submitter ⚠
- p.Asp400His Single submitter ⚠
- p.Cys415Phe Single submitter ⚠
- p.Cys81Ser Single submitter ⚠
- p.Gln31His Single submitter ⚠
- p.Glu101Lys Single submitter ⚠
- p.Glu193Lys Single submitter ⚠
- p.Glu231Ala Single submitter ⚠
- p.Glu249Asp Single submitter ⚠
- p.Glu249Gly Single submitter ⚠
- p.Glu311Gly Single submitter ⚠
- p.Glu335Gly Single submitter ⚠
- p.Glu371Val Single submitter ⚠
- p.Glu409Val Single submitter ⚠
- p.Glu53Asp Single submitter ⚠
- p.Glu76Ala Single submitter ⚠
- p.Gly178Ser Single submitter
- p.Gly203Arg Single submitter ⚠
- p.Gly210Asp Single submitter ⚠
- p.Gly250Cys Single submitter ⚠
- p.Gly26Arg Single submitter ⚠
- p.Gly274Asp Single submitter ⚠
- p.Gly274Ser Single submitter ⚠
- p.Gly298Ala Single submitter ⚠
- p.Gly310Arg Single submitter ⚠
- p.Gly310Glu Single submitter ⚠
- p.Gly314Val Single submitter ⚠
- p.Gly318Arg Single submitter ⚠
- p.Gly322Cys Single submitter ⚠
- p.Gly89Arg Single submitter ⚠
- p.Gly97Arg Single submitter ⚠
- p.His338Arg Single submitter ⚠
- p.His391Gln Single submitter ⚠
- p.His51Leu Single submitter ⚠
- p.Ile131Thr Single submitter ⚠
- p.Leu365Pro Single submitter ⚠
- p.Leu404Trp Single submitter ⚠
- p.Lys6Gln Single submitter ⚠
- p.Met189Ile Single submitter ⚠
- p.Met189Leu Single submitter ⚠
- p.Met410Ile Single submitter ⚠
- p.Phe18Ile Single submitter ⚠
- p.Phe343Ser Single submitter ⚠
- p.Phe428Leu Single submitter ⚠
- p.Pro126Leu Single submitter ⚠
- p.Pro192Ser Single submitter
- p.Pro20Ser Single submitter ⚠
- p.Pro258Leu Single submitter ⚠
- p.Pro260Leu Single submitter ⚠
- p.Pro260Ser Single submitter ⚠
- p.Pro306Arg Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro418Arg Single submitter
- p.Pro419Ser Single submitter ⚠
- p.Pro80Leu Single submitter ⚠
- p.Pro83Ala Single submitter ⚠
- p.Pro85Ala Single submitter ⚠
- p.Ser141Thr Single submitter ⚠
- p.Ser158Asn Single submitter ⚠
- p.Ser302Ile Single submitter ⚠
- p.Ser317Ala Single submitter ⚠
- p.Ser339Arg Single submitter ⚠
- p.Thr229Asn Single submitter ⚠
- p.Thr277Asn Single submitter ⚠
- p.Thr293Ile Single submitter ⚠
- p.Thr394Met Single submitter ⚠
- p.Thr416Met Single submitter ⚠
- p.Thr58Ser Single submitter ⚠
- p.Trp308Arg Single submitter ⚠
- p.Tyr353Cys Single submitter ⚠
- p.Val10Met Single submitter ⚠
- p.Val21Ala Single submitter ⚠
- p.Val21Ile Single submitter ⚠
- p.Val35Ala Single submitter ⚠
- p.Val35Ile Single submitter ⚠
- p.Val386Leu Single submitter ⚠
- p.Val386Met Single submitter ⚠